Linked Data
ClinVar Variation Id:
2441556
ClinVar RCV Id:
RCV003143394
dbSNP Id:
rs1386118231
gnomAD v4:
11-126275372-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126275372G>A , CM000673.2:g.126275372G>A | GRCh38 |
| NC_000011.9:g.126145267G>A , CM000673.1:g.126145267G>A | GRCh37 |
| NC_000011.8:g.125650477G>A | NCBI36 |
| NG_028029.1:g.11333G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.1160G>A | ||
| ENST00000532101.6:n.779G>A | ||
| ENST00000532125.2:c.674G>A | ENSP00000434178.2:p.Gly225Glu | |
| ENST00000533839.6:c.86-422G>A | ENSP00000509952.1:n.86-422G>A | |
| ENST00000534011.6:n.969G>A | ||
| ENST00000685484.1:c.677G>A | ENSP00000510622.1:p.Gly226Glu | |
| ENST00000685601.1:c.677G>A | ENSP00000510603.1:p.Gly226Glu | |
| ENST00000685765.1:c.677G>A | ENSP00000509991.1:p.Gly226Glu | |
| ENST00000685844.1:c.*214G>A | ENSP00000509820.1:n.*214G>A | |
| ENST00000685857.1:n.1416G>A | ||
| ENST00000686242.1:c.476G>A | ENSP00000508950.1:n.476G>A | |
| ENST00000686888.1:c.*244G>A | ENSP00000509619.1:n.*244G>A | |
| ENST00000687699.1:c.801G>A | ENSP00000508878.1:n.801G>A | |
| ENST00000687786.1:n.2113G>A | ||
| ENST00000688100.1:n.1598G>A | ||
| ENST00000688588.1:c.677G>A | ENSP00000510802.1:p.Gly226Glu | |
| ENST00000688927.1:n.2888G>A | ||
| ENST00000689283.1:c.*340G>A | ENSP00000509050.1:n.*340G>A | |
| ENST00000689477.1:c.*570G>A | ENSP00000508945.1:n.*570G>A | |
| ENST00000689765.1:c.*170G>A | ENSP00000509625.1:n.*170G>A | |
| ENST00000690512.1:c.*528G>A | ENSP00000509793.1:n.*528G>A | |
| ENST00000692039.1:c.*475G>A | ENSP00000508821.1:n.*475G>A | |
| ENST00000692336.1:c.701G>A | ENSP00000508540.1:p.Gly234Glu | |
| ENST00000693133.1:n.1157G>A | ||
| ENST00000263578.10:c.677G>A MANE Select | ENSP00000263578.5:p.Gly226Glu | |
| ENST00000263578.9:c.677G>A | ENSP00000263578.5:p.Gly226Glu | |
| ENST00000525083.5:n.397G>A | ||
| ENST00000525770.5:c.*309G>A | ENSP00000434739.1:n.*309G>A | |
| ENST00000527004.5:c.*21G>A | ENSP00000436374.1:n.*21G>A | |
| ENST00000530642.1:n.1459G>A | ||
| ENST00000532101.5:n.900G>A | ||
| ENST00000532125.1:c.635G>A | ENSP00000434178.1:p.Gly212Glu | |
| ENST00000533395.5:n.410G>A | ||
| ENST00000533839.5:n.238-422G>A | ||
| ENST00000534011.5:n.729G>A | ||
| ENST00000534315.5:n.989G>A | ||
| NM_017547.3:c.677G>A | NP_060017.1:p.Gly226Glu | |
| NR_037647.1:n.623G>A | ||
| NR_037648.1:n.863G>A | ||
| XM_006718879.2:c.167G>A | XP_006718942.1:p.Gly56Glu | |
| XM_006718880.2:c.44G>A | XP_006718943.1:p.Gly15Glu | |
| XM_006718881.2:c.44G>A | XP_006718944.1:p.Gly15Glu | |
| XM_011542895.1:c.167G>A | XP_011541197.1:p.Gly56Glu | |
| XM_011542896.1:c.167G>A | XP_011541198.1:p.Gly56Glu | |
| XM_006718879.3:c.167G>A | XP_006718942.1:p.Gly56Glu | |
| XM_006718881.3:c.44G>A | XP_006718944.1:p.Gly15Glu | |
| XM_011542895.2:c.167G>A | XP_011541197.1:p.Gly56Glu | |
| XM_011542896.2:c.167G>A | XP_011541198.1:p.Gly56Glu | |
| XM_017018000.2:c.677G>A | XP_016873489.1:p.Gly226Glu | |
| XM_017018001.1:c.167G>A | XP_016873490.1:p.Gly56Glu | |
| XM_017018002.1:c.167G>A | XP_016873491.1:p.Gly56Glu | |
| XM_017018003.2:c.44G>A | XP_016873492.1:p.Gly15Glu | |
| XM_017018004.1:c.44G>A | XP_016873493.1:p.Gly15Glu | |
| XM_017018005.1:c.44G>A | XP_016873494.1:p.Gly15Glu | |
| XM_017018006.2:c.44G>A | XP_016873495.1:p.Gly15Glu | |
| NM_017547.4:c.677G>A MANE Select | NP_060017.1:p.Gly226Glu | |
| NR_037647.2:n.509G>A | ||
| NR_037648.2:n.854G>A |